Ollier’s disease or Enchondromatosis

Hip Doctors

Ollier’s disease is considered a rare bone disease and its severity can vary from person to person. Early detection is the best way to prevent complications and limit damage to the affected bones.

What is Ollier's disease and how did it originate?

Ollier’s disease, also known as enchondromatosis, is a rare, non-hereditary condition characterized by the presence of multiple enchondromas in the bones. Enchondromas are benign tumors that form in the cartilage of the bones. This disease usually manifests itself in childhood and can affect one or more bones, being more common in the extremities.

Enchondromas in Ollier’s disease can lead to bone deformities, pathological fractures, and growth disturbances.

Causes of Ollier's Disease

The exact cause of Ollier’s disease is not known, but it is thought that it may be due to spontaneous and random mutations during embryonic development. People with Ollier’s disease have an increased risk of developing chondrosarcomas, a rare type of bone cancer. The risk of chondrosarcoma is estimated to be between 25% and 30% at 40 years of age.

Symptoms of Enchondromatosis

In many cases, enchondromas cause no symptoms and are discovered during tests done for other problems. However, some people may experience the following symptoms:

Bone deformities

Enchondromas cause deformities in the affected bones, which can result in an abnormal appearance of the limb or a discrepancy in limb length.

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Pathological fractures

Enchondromas weaken bones, increasing the risk of pathological fractures. These fractures can occur with minimal injuries or even no apparent injury at all.

Limitation of movement

Depending on the location of the enchondromas, there may be a limitation in the range of motion of the affected joints.

Don't underestimate the importance of early diagnosis!

Our orthopedists will help you get an accurate diagnosis and a proper treatment plan, with which you can manage this disease effectively.

Diagnosis

Diagnosis of Ollier’s disease may include:

Clinical Evaluation: The orthopedist begins by performing a physical exam to evaluate symptoms and look for the presence of enchondromas in the affected bones.

Radiographs: X-rays are a diagnostic tool commonly used to visualize enchondromas, the images can show the location, size, and number of tumors in the bones.

Bone scan: A bone scan is a test in which radioactive material is injected into the bloodstream to visualize enchondromas in the bones. This test can help identify occult enchondromas that can't be detected with conventional X-rays.

Computed tomography (CT) or magnetic resonance imaging (MRI): These imaging tests provide more detailed images of the enchondromas, which help assess the extent of involvement of the surrounding bones and tissues.

Biopsy: In some cases, biopsies of one or more enchondromas may be performed to confirm the diagnosis and rule out the presence of chondrosarcomas.

Treatments for Ollier's Disease

Treatment for Ollier’s disease varies depending on the severity of the enchondromas and the symptoms each individual presents. In this sense, some of the treatment options are:

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Observation

If the enchondromas are small, stable and don’t cause symptoms, your doctor may choose to follow up regularly to monitor your growth and detect any changes.

Surgery

In cases where enchondromas cause pain, deformity, or risk of fractures, surgery may be necessary. Surgery may involve removing the enchondroma or rebuilding the affected bone. It is important to note that surgery may not be possible in all cases, especially if there are multiple enchondromas or if they are located in hard-to-reach areas.

Radiation therapy

In some cases, radiation therapy may be used to reduce the size of the enchondromas and relieve symptoms. However, this treatment option can have side effects and should be carefully evaluated by a specialized medical team.

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Contact

The Panama Clinic, Tower B, 23rd Floor, Office 2315

ortopediapanamaclinic@gmail.com

(+507) 310 2866

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